Canonical Allele Identifier: CA322555831

Gene: IGLL1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573366A>G , CM000684.2:g.23573366A>G	GRCh38
NC_000022.10:g.23915553A>G , CM000684.1:g.23915553A>G	GRCh37
NC_000022.9:g.22245553A>G	NCBI36
NG_009791.1:g.11943T>C , LRG_69:g.11943T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020070.4:c.542T>C MANE Select	NP_064455.1:p.Leu181Pro
ENST00000330377.3:c.542T>C MANE Select	ENSP00000329312.2:p.Leu181Pro
NM_001369906.1:c.545T>C	NP_001356835.1:p.Leu182Pro
NM_020070.3:c.542T>C	NP_064455.1:p.Leu181Pro
NM_152855.2:c.*171T>C	NP_690594.1:n.*171T>C
NM_152855.3:c.*171T>C	NP_690594.1:n.*171T>C
ENST00000249053.3:c.*171T>C	ENSP00000249053.3:n.*171T>C
ENST00000330377.2:c.542T>C	ENSP00000329312.2:p.Leu181Pro
XM_011530169.1:c.545T>C	XP_011528471.1:p.Leu182Pro
XM_011530169.2:c.545T>C	XP_011528471.1:p.Leu182Pro